Mild form of Hunter's syndrome: clinical delineation based on 31 cases.

Abstract

SUMMARY The clinical features are described in 31 cases of the mild form of Hunter's syndrome (mucopolysaccharidosis II) ascertained in the British Isles. The mean age at onset was 49 3 years and at death was 21-7 years. Each patient had a large head and short stature. Umbilical and inguinal herniae were recorded in 95 % and 61 % of the cases. Evidence of cardiac disease was found in 91 %; this was the most common cause of death. All of the patients suffered from frequent upper or lower respiratory tract infection. Middle airways obstruction proved to be a particular hazard. A high incidence of sensorineural deafness and unexplained papilloedema was noted. The importance of regular health care for these individuals is stressed.

Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia

“…8 Allogeneic BMT has been used to treat Hunter disease, but remains controversial since it often fails to reverse CNS impairment [9][10][11] and carries with it substantial early mortality and morbidity. Here, we report treatment of an infant with mucopolysaccharisosis type IIB with transplantation of unrelated umbilical cord blood cells and its complication by autoimmune hemolytic anemia.…”

Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase

“…All three have had serious skeletal and connective tissue manifestations of disease including joint restriction, cervical spine stenosis, and carpal tunnel syndrome. These have all been described as common in published series of attenuated MPS II patients (Young and Harper 1982;Kulkarni et al 1987;Parsons et al 1996;Wraith et al 2008a, b). In contrast to descriptions in the literature in which hip dysplasia is a common complaint, it was not present clinically in these patients, although radiographs were not performed to exclude subclinical involvement.…”

“…Cardiac valvular disease is a nearly ubiquitous feature in older patients (Young and Harper 1982); even in the younger cohort of the Hunter Outcome Survey, it was present in 57% of patients and manifested at a median age of 6.1 years (Wraith et al 2008a, b). The variability in severity of this manifestation between these brothers was striking, with GM manifesting an almost fatal degree of aortic stenosis and DM having minimal disease.…”

Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter

“…In many patients, these changes occur in the first or second decade of life, in particular when the clinical progression of the disease is severe, so that respiratory deterioration is a common cause of death (Young and Harper 1983). However, this type of severe obstruction of the upper respiratory tract is also described for attenuated forms of the disease, and this obstruction has been shown to determine the clinical progression (Young and Harper 1982). In isolated cases, there is also relevant thoracic restriction (Young and Harper 1982), as was also seen in the patient under discussion: in 2005, besides a disturbed sleep profile and sleep apnea, he also showed a severe restrictive ventilation disorder with hypoventilation.…”

“…Attenuated cases with almost normal life expectancy have also been described, although very rarely (Young and Harper 1982;Jones et al 2009). Only around 10% of all Hunter patients reached the age of 25 before the introduction of enzyme replacement therapy (Wraith et al 2008;Jones et al 2009).…”